Phenotype #0000188580

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00249707
Associated disease	ataxia
Diagnosis/Initial	late-onset ataxia
Diagnosis/Definite	CANVAS
Phenotype details	peripheral neuropathy (HP:0009830); cerebellar dysfunction; no vestibular areflexia (-HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential
Inheritance	Familial, autosomal recessive
Age/Examination	47y (47 years)
Age/Onset	40y
Phenotype/Onset	unsteadiness
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2019-08-02 10:39:39 +02:00 (CEST)
Date last edited	N/A

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